DisGeNET - a database of gene-disease associations

Salaam Seizures, C1527366

N. genes: 7; N. variants: 7

Source: CLINVAR ×

Results per page

Gene

Disease 2

Variant

Source

Semantic type

Disease Class

Type

HPO Term

DO Class

N. genes1

N. genes2

N. of shared genes

Jaccard_g

p-value_g

N. variants1

N. variants2

N. of shared variants

Jaccard_v

p-value_v

Associated Disease

N. genes

N. variants

N. of shared genes

JI_g

p-value_g

N. of shared variants

JI_v

p-value_v

CUI:	C0270820
Disease:	Gelastic Epilepsy

Gelastic Epilepsy

2

2

2

0.29

2

0.29

CUI:	C0277799
Disease:	Intermittent fever

Intermittent fever

2

2

2

0.29

2

0.29

CUI:	C1849683
Disease:	No social interaction

No social interaction

3

3

2

0.25

2

0.25

CUI:	C4476567
Disease:	Reduced brain choline level by MRS

Reduced brain choline level by MRS

3

3

2

0.25

2

0.25

CUI:	C0494475
Disease:	Tonic - clonic seizures

Tonic - clonic seizures

17

21

4

0.20

4

0.17

CUI:	C1845245
Disease:	Lower limb hypertonia

Lower limb hypertonia

5

5

2

0.20

2

0.20

CUI:	C4025616
Disease:	CNS hypomyelination

CNS hypomyelination

5

6

2

0.20

2

0.18

CUI:	C0270846
Disease:	Epileptic drop attack

Epileptic drop attack

6

5

2

0.18

2

0.20

CUI:	C0013132
Disease:	Drooling

14

14

3

0.17

3

0.17

CUI:	C0270834
Disease:	Complex partial seizure with impairment of consciousness

Complex partial seizure with impairment of consciousness

7

10

2

0.17

2

0.13

CUI:	C4048268
Disease:	Cortical visual impairment

Cortical visual impairment

21

27

4

0.17

4

0.13

CUI:	C0578038
Disease:	Thin lips

8

8

2

0.15

1

7.1E-02

CUI:	C0009451
Disease:	Communicating Hydrocephalus

Communicating Hydrocephalus

1

1

1

0.14

1

0.14

CUI:	C0013363
Disease:	Dysautonomia

9

9

2

0.14

2

0.14

CUI:	C0014867
Disease:	Esophageal Varices

Esophageal Varices

1

0

1

0.14

0

0

CUI:	C0020541
Disease:	Portal Hypertension

Portal Hypertension

1

0

1

0.14

0

0

CUI:	C0085702
Disease:	Monocytosis

1

1

1

0.14

1

0.14

CUI:	C0152207
Disease:	Alternating Exotropia

Alternating Exotropia

1

1

1

0.14

1

0.14

CUI:	C0239935
Disease:	Hematocrit increased

Hematocrit increased

1

1

1

0.14

1

0.14

CUI:	C0302845
Disease:	MCV - raised

1

1

1

0.14

1

0.14

CUI:	C0580316
Disease:	Neutrophil count abnormal

Neutrophil count abnormal

1

1

1

0.14

1

0.14

CUI:	C0580550
Disease:	Lymphocyte count abnormal

Lymphocyte count abnormal

1

1

1

0.14

1

0.14

CUI:	C1378703
Disease:	Renal carcinoma

Renal carcinoma

1

0

1

0.14

0

0

CUI:	C1832916
Disease:	Timothy syndrome

Timothy syndrome

1

0

1

0.14

0

0

CUI:	C1834696
Disease:	Hyporeflexia of lower limbs

Hyporeflexia of lower limbs

1

1

1

0.14

1

0.14